Nicholas Pachter

Emailnicholas.pachter@uwa.edu.au

The University of Western Australia (M503), 35 Stirling Highway,
6009 Perth
Australia

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1 Similar Profiles

596 Citations
14 h-Index
34 Article
3 Review article
2 Chapter
1 Abstract/Meeting Abstract
More
- 1 Comment/debate

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia
FH Australasia Network Consensus Working Group, Watts, G. F., Sullivan, D. R., Hare, D. L., Kostner, K. M., Horton, A. E., Bell, D. A., Brett, T., Trent, R. J., Poplawski, N. K., Martin, A. C., Srinivasan, S., Justo, R. N., Chow, C. K., Pang, J., Ademi, Z., Ardill, J. J., Barnett, W., Bates, T. R., Beilin, L. J. & 65 others, Bishop, W., Black, J. A., Brett, P., Brown, A., Burnett, J. R., Bursill, C. A., Colley, A., Clifton, P. M., Ekinci, E. I., Elias, L., Figtree, G. A., Forge, B. H., Garton-Smith, J., Graham, D. F., Hamilton-Craig, I., Hamilton-Craig, C. R., Heal, C., Hespe, C. M., Hooper, A. J., Howes, L. G., Ingles, J., Irwin, J., Janus, E. D., Kangaharan, N., Keech, A. C., Kirke, A. B., Kritharides, L., Kyle, C. V., Lacaze, P., Lambert, K., Li, S. C. H., Malan, W., Maticevic, S., McQuillan, B. M., Mirzaee, S., Mori, T. A., Morton, A. C., Colquhoun, D. M., Moullin, J. C., Nestel, P. J., Nowak, K. J., O'Brien, R. C., Pachter, N., Page, M. M., Pedrotti, A., Psaltis, P. J., Radford, J., Reid, N. J., Robertson, E. N., Ryan, J. D. M., Sarkies, M. N., Schultz, C. J., Scott, R. S., Semsarian, C., Simons, L. A., Spinks, C., Tonkin, A. M., van Bockxmeer, F., Waddell-Smith, K. E., Ward, N. C., White, H. D., Wilson, A. M., Winship, I., Woodward, A. M. & Nicholls, S. J., Mar 2021, In: Heart Lung and Circulation. 30, 3, p. 324-349
Research output: Contribution to journal › Article › peer-review

Open Access
7 Citations (Scopus)
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry
Gupta, S., Nichols, C. B., Phillips, J., O'Sullivan, S., Ayres, C., Mohan, G. R., Leung, Y., Stewart, C. J. R., Tan, A., Schofield, L., Salfinger, S. G., Kiraly-Borri, C., Pachter, N. & Cohen, P. A., 1 Jun 2021, In: International Journal of Gynecological Cancer. 31, 6, p. 846 - 851
Research output: Contribution to journal › Article › peer-review
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 2 Mar 2021, (E-pub ahead of print) In: European Journal of Human Genetics.
Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Lassmann, T., Francis, R. W., Weeks, A., Tang, D., Jamieson, S. E., Broley, S., Dawkins, H. J. S., Dreyer, L., Goldblatt, J., Groza, T., Kamien, B., Kiraly-Borri, C., McKenzie, F., Murphy, L., Pachter, N., Pathak, G., Poulton, C., Samanek, A., Skoss, R., Slee, J. & 4 others, Townshend, S., Ward, M., Baynam, G. S. & Blackwell, J. M., Dec 2020, In: npj Genomic Medicine. 5, 1, 54.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Scopus)
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators & HEBON Investigators, Jan 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.
Research output: Contribution to journal › Article › peer-review

Open Access
33 Citations (Scopus)

1 Finished

Genome-wide methylation profiling in infants with and without congenital heart defects
Pachter, N., Goldblatt, J. & Zhang, B.
Perth Children’s Hospital
1/01/15 → 31/12/16
Project: Research

Nicholas Pachter

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Research output

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Projects

Genome-wide methylation profiling in infants with and without congenital heart defects